GeneBe

rs3045215

Positions:

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The ENST00000366609.4(IRF2BP2):​c.*1965_*1966insACT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 0)

Consequence

IRF2BP2
ENST00000366609.4 3_prime_UTR

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 3.02
Variant links:
Genes affected
IRF2BP2 (HGNC:21729): (interferon regulatory factor 2 binding protein 2) This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
IRF2BP2NM_182972.3 linkuse as main transcriptc.*1965_*1966insACT 3_prime_UTR_variant 2/2 ENST00000366609.4 NP_892017.2
IRF2BP2NM_001077397.1 linkuse as main transcriptc.*1965_*1966insACT 3_prime_UTR_variant 2/2 NP_001070865.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
IRF2BP2ENST00000366609.4 linkuse as main transcriptc.*1965_*1966insACT 3_prime_UTR_variant 2/21 NM_182972.3 ENSP00000355568 P3Q7Z5L9-1
IRF2BP2ENST00000366610.7 linkuse as main transcriptc.*1965_*1966insACT 3_prime_UTR_variant 2/21 ENSP00000355569 A1Q7Z5L9-2

Frequencies

GnomAD3 genomes
Cov.:
0
GnomAD4 exome
Cov.:
0
GnomAD4 genome
Cov.:
0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr1-234740917; API